Associate Director, Diagnostic Molecular Genetics, Memorial Sloan Kettering Cancer Center
I am an ABMGG-certified clinical molecular geneticist and Associate Director of Diagnostic Molecular Genetics laboratory at Memorial Sloan Kettering Cancer Center. My research focuses on developing resources to support genomic medicine and utilizing them for discovery of novel disease genes and mechanisms, particularly for hereditary cancers and myopathies. I study heritable contribution to cancer and the relationship between germline and somatic mutations using paired tumor-normal sequencing. I am also the Co-Chair of the ClinGen Congenital Myopathies Expert Panel and oversee the review of genes and variants associated with myopathies regarding their causal role for disease. My long-term goals are to combine cutting-edge molecular technologies with accurate and efficient clinical interpretation to improve the screening, diagnosis, and management of hereditary cancers and other genetic disorders, and facilitate their use in personalized medicine.